Gaucher Disease Educational Series

In this Issue:

Gaucher disease is one of the commonest lysosomal storage disorders. It is a rare autosomal
recessive disorder characterised by the defective function of the enzyme β-glucocerebrosidase
leading to accumulation of glucocerebroside and other glucosphingolipids that are normal
intermediates in the catabolism of globoside and gangliosides. Three variants of Gaucher disease
have been delineated (see Table 1). Type 1 is the most common in the Western world and is
distinguished from types 2 and 3 by the lack of early onset primary central nervous system
(CNS) deterioration. Type 2, the acute neuronopathic form of the disease, has onset with severe
CNS involvement in the first months and with death <5 years. Type 3, subacute neuronopathic,
has several subtypes with variable degrees of CNS and visceral disease. Gaucher Disease is
characterised clinically by hepatosplenomegaly, bone lesions and haematological complications,
and more rarely lungs and other organs are affected in all forms of Gaucher disease.1

The quality of life of patients with Gaucher disease was greatly improved by the development
of specific enzyme replacement therapy. Previously, therapy with surgical procedures, such as
splenectomy and joint replacements, was symptomatic treatment for complications of Gaucher
disease and did not correct the underlying metabolic abnormality.

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